ASCL4 p.Lys156Arg
c.467A>G · rs202145704 · VCV2526045
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0367%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.254 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP -1, phastCons 1 |
| Regional constraint | o/e 1.28 | unconstrained · MANE · 515 bp · p 5.2e-06 · regional, not allelic |
| Overall | ||
| CADD | 19.54 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0367%
African / African-American · 25/68,190 alleles
Filtering AF
0.0255%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0218%
Overall
0.00243%
36/1,482,776 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0367% | 2,728 |
| East Asian | 0.0126% | 7,949 |
| European (non-Finnish) | 0.000532% | 187,881 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ASCL4
- Protein
- p.Lys156Arg
- Coding
- c.467A>G
- MANE Select
- NM_203436
- dbSNP
- rs202145704
- Type
- single nucleotide variant
- Location
- chr12:107775685 (GRCh38)
- Gene constraint
- LOEUF 1.921 · pLI 0.13 (gnomAD)
- Structure
- AlphaFold pLDDT 71.48
- Residue 156
- the 'disordered' region
Similar variants
- ASCL4 p.Ala141Thr Uncertain significance ★ same type
- ASCL4 p.Ala157Ser Uncertain significance ★ same type
- ASCL4 p.Ala160Val Uncertain significance ★ same type
- ASCL4 p.Ala50Glu Uncertain significance ★ same type
- ASCL4 p.Ala68Thr Uncertain significance ★ same type
- ASCL4 p.Arg115Cys Uncertain significance ★ same type
- ASCL4 p.Arg32Gln Uncertain significance ★ same type
- ASCL4 p.Arg33Gly Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ascl4-p-lys156arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown